Sugie H, Kobayashi J, Sugie Y, Ichimura M, Miyamoto R, Ito T, Shimizu K, Igarashi Y
Department of Pediatrics, Hamamatsu University School of Medicine, Japan.
Neurology. 1988 Apr;38(4):602-5. doi: 10.1212/wnl.38.4.602.
We report a 5-month-old boy with recurrent vomiting, lethargy, and poor weight gain. He had profound metabolic acidosis and nonketotic dicarboxylic aciduria. The serum and muscle carnitine levels were significantly low (60% and 10% of the control means, respectively), suggesting that the patient had a systemic carnitine deficiency syndrome. The patient showed apparent clinical improvement on oral carnitine administration. A quadriceps muscle biopsy revealed a slight increase in intrafiber lipid droplets and mild accumulation of glycogen in the subsarcolemmal portion. An anaerobic glycolysis in vitro study showed a block after glucose-1-phosphate and before glucose-6-phosphate. Direct measurement of individual glycolytic enzymes in muscle of the patient demonstrated a marked decrease in phosphoglucomutase (PGM) activity (13% of the control mean). The specific defect of PGM activity in this patient suggests that the block in the anaerobic glycolytic pathway is the primary abnormality. PGM deficiency can be added as a newly recognized cause of secondary systemic carnitine deficiency syndromes.
我们报告了一名5个月大的男婴，有反复呕吐、嗜睡和体重增加缓慢的症状。他患有严重的代谢性酸中毒和非酮症性二羧酸尿症。血清和肌肉肉碱水平显著降低（分别为对照平均值的60%和10%），提示该患者患有全身性肉碱缺乏综合征。口服肉碱后，患者的临床症状明显改善。股四头肌活检显示肌纤维内脂质小滴略有增加，肌膜下部分糖原轻度积聚。体外无氧糖酵解研究显示，在1-磷酸葡萄糖之后、6-磷酸葡萄糖之前出现阻断。对该患者肌肉中各个糖酵解酶的直接测量表明，磷酸葡萄糖变位酶（PGM）活性显著降低（为对照平均值的13%）。该患者PGM活性的特定缺陷表明，无氧糖酵解途径的阻断是主要异常。PGM缺乏可作为继发性全身性肉碱缺乏综合征的一个新发现的病因。
